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Complex reorganization and predominant non- homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration
Complex reorganization and predominant non- homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration
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Complex reorganization and predominant non- homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

CHIANG, Colby ; JACOBSEN, Jessie C ; MCLAUGHLAN, Clive J ; SIMON BAWDEN, C ; REID, Suzanne J ; FAULL, Richard L. M ; SNELL, Russell G ; HALL, Ira M ; YIPING SHEN ; OHSUMI, Toshiro K ; BOROWSKY, Mark L ; DALY, Mark J ; ERNST, Carl ; LEE, Charles ; MORTON, Cynthia C ; MACDONALD, Marcy E ; GUSELLA, James F ; TALKOWSKI, Michael E ; HANSCOM, Carrie ; HEILBUT, Adrian ; BLUMENTHAL, Ian ; MILLS, Ryan E ; KIRBY, Andrew ; LINDGREN, Amelia M ; RUDIGER, Skye R

Nature genetics, 2012-04, Vol.44 (4), p.390-397 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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2
Genetics, genomics and gene discovery in the auditory system
Genetics, genomics and gene discovery in the auditory system
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Genetics, genomics and gene discovery in the auditory system

MORTON, Cynthia C

Human molecular genetics, 2002-05, Vol.11 (10), p.1229-1240 [Periódico revisado por pares]

Oxford: Oxford University Press

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3
Regional ecosystem structure and function: ecological insights from remote sensing of tropical forests
Regional ecosystem structure and function: ecological insights from remote sensing of tropical forests
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Regional ecosystem structure and function: ecological insights from remote sensing of tropical forests

Chambers, Jeffrey Q. ; Asner, Gregory P. ; Morton, Douglas C. ; Anderson, Liana O. ; Saatchi, Sassan S. ; Espírito-Santo, Fernando D.B. ; Palace, Michael ; Souza, Carlos

Trends in ecology & evolution (Amsterdam), 2007-08, Vol.22 (8), p.414-423 [Periódico revisado por pares]

Oxford: Elsevier Ltd

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4
Next-Generation Sequencing Strategies Enable Routine Detection of Balanced Chromosome Rearrangements for Clinical Diagnostics and Genetic Research
Next-Generation Sequencing Strategies Enable Routine Detection of Balanced Chromosome Rearrangements for Clinical Diagnostics and Genetic Research
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Next-Generation Sequencing Strategies Enable Routine Detection of Balanced Chromosome Rearrangements for Clinical Diagnostics and Genetic Research

Talkowski, Michael E. ; Ernst, Carl ; Heilbut, Adrian ; Chiang, Colby ; Hanscom, Carrie ; Lindgren, Amelia ; Kirby, Andrew ; Liu, Shangtao ; Muddukrishna, Bhavana ; Ohsumi, Toshiro K. ; Shen, Yiping ; Borowsky, Mark ; Daly, Mark J. ; Morton, Cynthia C. ; Gusella, James F.

American journal of human genetics, 2011-04, Vol.88 (4), p.469-481 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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5
Mutations in the gene encoding B1 subunit of H + -ATPase cause renal tubular acidosis with sensorineural deafness
Mutations in the gene encoding B1 subunit of H + -ATPase cause renal tubular acidosis with sensorineural deafness
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Mutations in the gene encoding B1 subunit of H + -ATPase cause renal tubular acidosis with sensorineural deafness

Lifton, Richard P ; Karet, Fiona E ; Finberg, Karin E ; Nelson, Raoul D ; Nayir, Ahmet ; Mocan, Hilal ; Sanjad, Sami A ; Rodriguez-Soriano, Juan ; Santos, Fernando ; Cremers, Cor W.R.J ; Pietro, Antonio Di ; Hoffbrand, Barry I ; Winiarski, Jacek ; Bakkaloglu, Aysin ; Ozen, Seza ; Dusunsel, Ruhan ; Goodyer, Paul ; Hulton, Sally A ; Wu, Doris K ; Skvorak, Anne B ; Morton, Cynthia C ; Cunningham, Michael J ; Jha, Vivekanand

Nature genetics, 1999-01, Vol.21 (1), p.84-90 [Periódico revisado por pares]

London: Nature Publishing Group

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6
Constitutional Rearrangement of the Architectural Factor HMGA2: A Novel Human Phenotype Including Overgrowth and Lipomas
Constitutional Rearrangement of the Architectural Factor HMGA2: A Novel Human Phenotype Including Overgrowth and Lipomas
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Constitutional Rearrangement of the Architectural Factor HMGA2: A Novel Human Phenotype Including Overgrowth and Lipomas

Ligon, Azra H. ; Moore, Steven D.P. ; Parisi, Melissa A. ; Mealiffe, Matthew E. ; Harris, David J. ; Ferguson, Heather L. ; Quade, Bradley J. ; Morton, Cynthia C.

American journal of human genetics, 2005-02, Vol.76 (2), p.340-348 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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7
Genome-wide Linkage and Association Analyses Implicate FASN in Predisposition to Uterine Leiomyomata
Genome-wide Linkage and Association Analyses Implicate FASN in Predisposition to Uterine Leiomyomata
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Genome-wide Linkage and Association Analyses Implicate FASN in Predisposition to Uterine Leiomyomata

EGGERT, Stacey L ; HUYCK, Karen L ; TRELOAR, Susan A ; ZONDERVAN, Krina T ; HEATH, Andrew C ; MADDEN, Pamela A. F ; ROSE, Lynda ; BURING, JulieE ; RIDKER, Paul M ; CHASMAN, Daniel I ; MARTIN, Nicholas G ; CANTOR, Rita M ; SOMASUNDARAM, Priya ; MORTON, Cynthia C ; KAVALLA, Raghava ; STEWART, Elizabeth A ; LU, Ake T ; PAINTER, Jodie N ; MONTGOMERY, Grant W ; MEDLAND, Sarah E ; NYHOLT, Dale R

American journal of human genetics, 2012-10, Vol.91 (4), p.621-628 [Periódico revisado por pares]

Cambridge, MA: Cell Press

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8
Disruption of a Large Intergenic Noncoding RNA in Subjects with Neurodevelopmental Disabilities
Disruption of a Large Intergenic Noncoding RNA in Subjects with Neurodevelopmental Disabilities
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Disruption of a Large Intergenic Noncoding RNA in Subjects with Neurodevelopmental Disabilities

Talkowski, Michael E. ; Maussion, Gilles ; Crapper, Liam ; Rosenfeld, Jill A. ; Blumenthal, Ian ; Hanscom, Carrie ; Chiang, Colby ; Lindgren, Amelia ; Pereira, Shahrin ; Ruderfer, Douglas ; Diallo, Alpha B. ; Lopez, Juan Pablo ; Turecki, Gustavo ; Chen, Elizabeth S. ; Gigek, Carolina ; Harris, David J. ; Lip, Va ; An, Yu ; Biagioli, Marta ; MacDonald, Marcy E. ; Lin, Michael ; Haggarty, Stephen J. ; Sklar, Pamela ; Purcell, Shaun ; Kellis, Manolis ; Schwartz, Stuart ; Shaffer, Lisa G. ; Natowicz, Marvin R. ; Shen, Yiping ; Morton, Cynthia C. ; Gusella, James F. ; Ernst, Carl

American journal of human genetics, 2012-12, Vol.91 (6), p.1128-1134 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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9
Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9
Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9
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Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9

Robertson, N G ; Hamaker, S A ; Patriub, V ; Aster, J C ; Morton, C C

Journal of medical genetics, 2003-07, Vol.40 (7), p.479-486 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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10
Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies
Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies
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Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies

Kim, Hyung-Goo ; Kim, Hyun-Taek ; Leach, Natalia T. ; Lan, Fei ; Ullmann, Reinhard ; Silahtaroglu, Asli ; Kurth, Ingo ; Nowka, Anja ; Seong, Ihn Sik ; Shen, Yiping ; Talkowski, Michael E. ; Ruderfer, Douglas ; Lee, Ji-Hyun ; Glotzbach, Caron ; Ha, Kyungsoo ; Kjaergaard, Susanne ; Levin, Alex V. ; Romeike, Bernd F. ; Kleefstra, Tjitske ; Bartsch, Oliver ; Elsea, Sarah H. ; Jabs, Ethylin Wang ; MacDonald, Marcy E. ; Harris, David J. ; Quade, Bradley J. ; Ropers, Hans-Hilger ; Shaffer, Lisa G. ; Kutsche, Kerstin ; Layman, Lawrence C. ; Tommerup, Niels ; Kalscheuer, Vera M. ; Shi, Yang ; Morton, Cynthia C. ; Kim, Cheol-Hee ; Gusella, James F.

American journal of human genetics, 2012-07, Vol.91 (1), p.56-72 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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